Variant report

Variant	esv2521416
Chromosome Location	chr8:51348603-51350140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541671012	chr8:51348637-51348638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560265285	chr8:51348657-51348658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73581393	chr8:51348684-51348685	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538912267	chr8:51348705-51348706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79656539	chr8:51348712-51348713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559100400	chr8:51348717-51348718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10957915	chr8:51348758-51348759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550514082	chr8:51348814-51348815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562651613	chr8:51348820-51348821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10957916	chr8:51348821-51348822	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368082670	chr8:51348870-51348871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548521044	chr8:51348895-51348896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567082879	chr8:51348896-51348897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529742343	chr8:51348898-51348899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534115768	chr8:51348931-51348932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78594609	chr8:51348939-51348940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571161863	chr8:51348950-51348951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34117866	chr8:51348999-51349000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143686511	chr8:51349006-51349007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574852921	chr8:51349007-51349008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75709616	chr8:51349044-51349045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574605458	chr8:51349062-51349063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372577591	chr8:51349077-51349078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138887495	chr8:51349102-51349103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143018720	chr8:51349127-51349128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540617029	chr8:51349150-51349151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560427813	chr8:51349151-51349152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532628083	chr8:51349170-51349171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544885762	chr8:51349186-51349187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547867512	chr8:51349261-51349262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565044239	chr8:51349305-51349306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189016596	chr8:51349340-51349341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575891205	chr8:51349378-51349379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544213128	chr8:51349404-51349405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34240716	chr8:51349408-51349409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181698239	chr8:51349416-51349417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115855499	chr8:51349456-51349457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548698312	chr8:51349457-51349458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186187298	chr8:51349460-51349461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192152298	chr8:51349483-51349484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183924803	chr8:51349484-51349485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373831870	chr8:51349486-51349487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571172406	chr8:51349523-51349524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185903535	chr8:51349544-51349545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550472136	chr8:51349547-51349548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144664164	chr8:51349549-51349550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561280758	chr8:51349571-51349572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550423631	chr8:51349575-51349576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190972108	chr8:51349577-51349578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571999357	chr8:51349590-51349591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51347800-51349200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:51347800-51349200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:51348200-51349600	Enhancers	Brain Germinal Matrix	brain
4	chr8:51348400-51348800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:51348400-51356200	Weak transcription	Fetal Intestine Small	intestine
6	chr8:51348600-51348800	Enhancers	Liver	Liver
7	chr8:51348800-51350000	Weak transcription	Liver	Liver
8	chr8:51349600-51350600	Weak transcription	Brain Germinal Matrix	brain
9	chr8:51350000-51350600	Enhancers	Liver	Liver

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